Boy gets an almost completely new skin transplant

Boy gets an almost completely new skin transplant

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Boy gets new skin thanks to gene therapy
For the first time worldwide, a team of doctors successfully treated a patient with transplants made from genetically modified stem cells. Due to a rare illness, the boy lost about 80 percent of his epidermis. The child's condition was critical. The doctors had to act quickly because all conventional therapies had already failed.

For the first time, a treatment team from the Fire Injury Center at the Ruhr University in Bochum and the Center for Regenerative Medicine at the University of Modena (Italy) successfully treated a boy with major skin damage with transplants from genetically modified stem cells. The boy suffers from the so-called butterfly disease, a genetic skin disease that had destroyed around 80 percent of his epidermis.

After all established therapies had failed, the Bochum team of doctors decided on an experimental approach: They transplanted skin from genetically modified stem cells onto the wound surfaces. The treatment was successful, so that today, about two years later, the boy can participate in family and social life again. The doctors report in "Nature".

Dangerous condition
The butterfly disease, scientifically called epidermolysis bullosa, describes a congenital skin disease that is considered to be incurable. The cause is damage to protein-forming genes, which are essential for the skin structure. Even the slightest impact or impact can lead to the formation of blisters, wounds and skin loss with scarring. Depending on the form of the disease, internal organs can also be affected or severe functional disorders can be caused.

The disease severely limits the quality of life of those affected; it is often life-threatening. Just like in the case of the then seven-year-old Hassan: When he was admitted to the children's intensive care unit of the Catholic Clinic in Bochum in June 2015, 60 percent of his epidermis was lost. "He suffered from severe sepsis with a high fever and weighed only 17 kilograms - a life-threatening condition," emphasizes Dr. Tobias Rothoeft, senior physician at the University Clinic for Pediatric and Adolescent Medicine at the Catholic Clinic in Bochum. All conservative and surgical therapy attempts failed.

Worldwide new therapy concept for large skin defects
Due to the poor prognosis, the Bochum team of pediatricians and plastic surgeons decided in cooperation with Prof. Dr. Michele De Luca from the Center for Regenerative Medicine at the University of Modena for an experimental therapy: the transplantation of genetically modified epidermal stem cells. These patient stem cells were obtained by skin biopsy and processed in Modena. To do this, the researchers introduced the intact gene into the stem cells obtained. So-called retroviral vectors are used, i.e. virus particles modified specifically for gene transport.

The genetically modified stem cells were grown in a clean room laboratory and then processed into transgenic skin grafts. After the parents' approval, the approval of the responsible authorities and the state of North Rhine-Westphalia and the certification of the operating center of the Bergmannsheil University Hospital as a genetic engineering facility, the transplantation could be carried out.

80 percent of the body surface transplanted
The transplants were transplanted to the arms and legs, the entire back, the flanks and parts of the abdomen as well as the neck and face in the University Clinic for Plastic Surgery of the miner's health. "In total, the little patient was transplanted with 0.94 square meters of transgenic epidermis to cover all defects and thus 80 percent of his body surface," said private lecturer Dr. Tobias Hirsch, Senior Consultant at the Clinic for Plastic Surgery and Severe Burn Injuries at Bergmannsheil.

After the first transplant in October 2015, the patient's condition began to improve. The transgenic stem cells formed a new epidermis with intact binding protein in the area of ​​all transplanted areas. The integration of the intact gene through the retroviral gene transfer into the genetic material of the epidermal stem cells had worked and could be proven to be stable.

Very good treatment result
In February 2016, Hassan was released from inpatient treatment. Today, almost two years after the start of treatment, the transplant areas show high-quality, stress-resistant skin with intact lipid replenishment, beginning to develop hair and without scar contractures. Hassan visits primary school again and takes part in his family's social life.

According to the international treatment team, Hassan is the world's first patient to receive extensive skin grafts from transgenic epidermal stem cells. "This approach offers considerable potential for the research and development of new therapeutic methods for the treatment of epidermolysis bullosa and of patients with major skin damage," says Tobias Hirsch.

The case is considered unique in this dimension worldwide. "Transplanting 80 percent of the skin and monitoring the patient intensively over eight months was an extreme challenge," emphasize Tobias Rothoeft and Tobias Hirsch. “The close cooperation between the Bochum clinics and the expertise of the University of Modena has led to success. We are very proud of this."

Participated in the therapy from Bochum
The lecturer Dr. Bochum University Hospital involved in the therapy Tobias Hirsch, Senior Consultant at the Clinic for Plastic Surgery and Severe Burn Injuries at Bergmannsheil (Director: Prof. Marcus Lehnhardt) and Dr. Tobias Rothoeft and Dr. Norbert Teig, senior physician at the University Clinic for Pediatric and Adolescent Medicine at the Catholic Clinic in Bochum (Director: Prof. Thomas Lücke).

Author and source information

Video: 2018 Demystifying Medicine: Use of induced pluripotent stem cells iPSC for regenerative medicine (July 2022).


  1. Cronan

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  3. Trennen

    Let's talk about this topic.

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